Canonical Allele Identifier: CA2628329267

Gene: FBN1

Linked Data

• gnomAD v4: 15-48483779-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483781del , CM000677.2:g.48483781del	GRCh38
NC_000015.9:g.48775978del , CM000677.1:g.48775978del	GRCh37
NC_000015.8:g.46563270del	NCBI36
NG_008805.2:g.167009del , LRG_778:g.167009del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3838+38del	ENSP00000453958.2:n.3838+38del
ENST00000674301.2:c.3838+38del	ENSP00000501333.2:n.3838+38del
ENST00000684448.1:n.2512+38del
ENST00000316623.10:c.3838+38del MANE Select	ENSP00000325527.5:n.3838+38del
ENST00000316623.9:c.3838+38del	ENSP00000325527.5:n.3838+38del
ENST00000537463.6:c.637-9130del	ENSP00000440294.2:n.637-9130del
NM_000138.4:c.3838+38del , LRG_778t1:c.3838+38del	NP_000129.3:n.3838+38del
NM_000138.5:c.3838+38del MANE Select	NP_000129.3:n.3838+38del